Canonical Allele Identifier: CA624209321

Gene: APRT

Linked Data

• dbSNP Id: rs1382178603
• gnomAD v2: 16-88876885-C-CGAA
• gnomAD v4: 16-88810477-C-CGAA
• MyVariant Identifiers: chr16:g.88876885_88876886insGAA (hg19) ; chr16:g.88810477_88810478insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810477_88810478insGAA , CM000678.2:g.88810477_88810478insGAA	GRCh38
NC_000016.9:g.88876885_88876886insGAA , CM000678.1:g.88876885_88876886insGAA	GRCh37
NC_000016.8:g.87404386_87404387insGAA	NCBI36
NG_008013.1:g.6457_6458insTTC
NG_028266.1:g.11700_11701insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.266_267insTTC MANE Select	ENSP00000367615.3:p.Arg89_Gly90insSer
ENST00000378364.7:c.266_267insTTC	ENSP00000367615.3:p.Arg89_Gly90insSer
ENST00000426324.6:c.266_267insTTC	ENSP00000397007.2:p.Arg89_Gly90insSer
ENST00000562464.1:n.332-330_332-329insTTC
ENST00000563655.5:c.241-330_241-329insTTC	ENSP00000456012.1:n.241-330_241-329insTTC
ENST00000567391.5:c.188-330_188-329insTTC	ENSP00000457964.1:n.188-330_188-329insTTC
ENST00000567713.5:c.266_267insTTC	ENSP00000455749.1:p.Arg89_Gly90insSer
ENST00000568319.5:c.188-330_188-329insTTC	ENSP00000456905.1:n.188-330_188-329insTTC
ENST00000569616.1:c.264_265insTTC
NM_000485.2:c.266_267insTTC	NP_000476.1:p.Arg89_Gly90insSer
NM_001030018.1:c.266_267insTTC	NP_001025189.1:p.Arg89_Gly90insSer
NM_000485.3:c.266_267insTTC MANE Select	NP_000476.1:p.Arg89_Gly90insSer
NM_001030018.2:c.266_267insTTC	NP_001025189.1:p.Arg89_Gly90insSer